Results 51 to 60 of about 1,144,251 (159)

Thymus Transplantation for Complete Digeorge Syndrome: European Experience [PDF]

, 2017
Thymus transplantation is a promising strategy for the treatment of athymic complete DiGeorge syndrome (cDGS)
M. Louise Markert, Luigi Poliani, Poliani, L, Neil Sebire, T. Ronan Leahy, Austen Worth, Tessa Crompton, H. Bobby Gaspar, Parsley, Kathryn L, Sansom, David M, Ifversen, M, Sansom, D, Bremner, Ronald, Joe Curry, Lizzie Hutchison, Ricciardelli, Ida, Cheung, M, Konstantinos Mengrelis, Devlin, B, E. Graham Davies, Anna Furmanski, Ip, Winnie, Bremner, R, Mengrelis, K, Crompton, T, Poliani, Luigi, Elizabeth McCarthy, Gilmour, Kimberly, Davies, G, Sansom, David M., Erichsen, Hans Christian, Melissa Cheung, Ricciardelli, I, Markert, ML, Sebire, N, Gaspar, B, Browning, Michael, Alina Papadopol, Markert, M. Louise, Worth, A, POLIANI, Pietro Luigi, Parsley, K, Despina Moshous, Halliday, Neil, Voor, T, Devlin, Blythe, Adrian J. Thrasher, Thrasher, A, Ip, W, Worth, Austen, Moshous, Despina, Kim Neuling, Hutchison, L, David M. Sansom, Kathryn L. Parsley, Neuling, Kim, Browning, M, Papadopol, A, Furmanski, Anna, Maimaris, Jesmeen, Jesmeen Maimaris, Curry, J, Mengrelis, Konstantinos, Marianne Ifversen, Gaspar, H. Bobby, Crompton, Tessa, Kimberly Gilmour, Michael Browning, Neuling, K, Erichsen, HC, Moshous, D, Stuart Adams, McCarthy, E, Sebire, Neil, Jolanta Bernatoniene, Bernatoniene, Jolanta, Neil Halliday, Leahy, T. Ronan, Gilmour, K, Halliday, N, Parlsey, Kathryn L., Blythe Devlin, Maimaris, J, Cheung, Melissa, Voor, Tiia, Leahy, R, Tiia Voor, Hans Christian Erichsen, Hutchison, Lizzie, Curry, Joe, Davies, E Graham, Davies, E. Graham, Ida Ricciardelli, Papadopol, Alina, Ifversen, Marianne, Winnie Ip, Adams, Stuart, Adams, S, Ronald Bremner, Furmanski, A, Bernatoniene, J, Mccarthy, Elizabeth, Malgorzata, P, Pac, Malgorzata, Thrasher, Adrian J., Malgorzata Pac   +105 more
core   +1 more source

Anaesthetic management for cleft palate in a child with digeorge syndrome: Look before you leap! [PDF]

, 1970
DiGeorge syndrome is a multisystem disorder associated with various cardiac anomalies, aplasia or hypoplasia of thymus and parathyroid glands, palatal defects, immune deficiency, and characteristic facial features. Here, we are reporting the case of
Sahoo, Sangeeta, Swaro, Swastika, Ahmad, Suma R, Hansda, Upendra   +3 more
core   +1 more source

Concurrent Scoliosis and Dentofacial Anomaly: A Case Report

Case Reports in Orthopedic Research, 2021
The relationship between scoliosis, dentofacial anomaly, and malocclusion is poorly understood. We report a novel and complex pediatric case of concurrent juvenile scoliosis, dentofacial anomaly, and malocclusion, successfully treated and managed by an ...
Samuel Bennett, Colin Whitewood, Jiake Xu   +2 more
doaj   +1 more source

Influence of Tracheostomy Level on Surgical Management of Pediatric Airway Stenosis

The Laryngoscope, Volume 136, Issue 9, Page 3907-3917, September 2026.
Tracheostomy location is a critical determinant of surgical complexity and outcomes in pediatric laryngotracheal stenosis. Misplacement may lead to longer tracheal resections, an increased need for stoma relocation, more complex reconstruction, and secondary stenosis. Strategic planning of tracheostomy position can improve surgical outcomes.
Alexandre Waldmeyer, Kishore Sandu, François Gorostidi   +2 more
wiley   +1 more source

Hypoparathyroidism in DiGeorge syndrome [PDF]

, 2004
This brief review summarizes current knowledge concerning clinical characteristics of the hypoparathyroidism in DiGeorge syndrome (DGS) and pathogenetic hypotheses based upon studies in mouse models.
Baldini, Antonio
core   +1 more source

Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management

Diagnostics, 2022
Eczema is a classical characteristic not only in atopic dermatitis but also in various genodermatosis. Patients suffering from primary immunodeficiency diseases such as hyper-immunoglobulin E syndromes, Wiskott-Aldrich syndrome, immune dysregulation ...
Chaolan Pan, Anqi Zhao, Ming Li
doaj   +1 more source

Late diagnosed DiGeorge syndrome in a 44-year-old female

, 2021
\(\bf Background\) DiGeorge syndrome, also known as ‘CATCH 22’, is the most common deletion in humans and is one of the velocardiofacial syndromes. It is characterized by a specific facial phenotype, and structural and functional abnormalities in the ...
Sommer, Philipp (Prof. Dr. med.), Isgandarova, Khuraman (Dr. med.), Molatta, Stephan (Dr. med. Dipl. Ing.)   +2 more
core   +1 more source

Thrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome

Case Reports in Obstetrics and Gynecology, 2016
Chromosome 22q11.2 deletion syndrome, also known as DiGeorge or velocardiofacial syndrome, is associated with a wide spectrum of phenotypic features. It is known to be associated with severe macrothrombocytopenia. Postpartum hemorrhage is a leading cause
Sarah L. Pachtman, Kathy Deng, Deepak Nanda   +2 more
doaj   +1 more source

When to consider an inborn error of immunity: clues for physicians

Internal Medicine Journal, Volume 56, Issue 9, Page 1488-1499, September 2026.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

DiGeorge syndrome associated with left lung aplasia

, 2001
We report a patient with clinical and cytogenetic findings consistent with DiGeorge-velocardiofacial syndrome and aplasia of the left lung. To the best of our knowledge, this is the first reported case of DiGeorge-velocardiofacial syndrome associated ...
Gunlemez, AYLA, Erden, A, Fitoz, S, Ucar, T   +3 more
core   +1 more source